Phenotype #0000053565

Individual ID 00073749
Associated disease LGMDR2;LGMD2B
Phenotype details Enlarged calf muscle (HP:00014300), Difficulty running (HP:0009046), Elevated serum creatine phosphokinase (HP:0003236), no arrhythmia (-HP:0011675), normal echocardiogram (-HP:0003116), Subcapsular cataract (HP:0000523), Reduced muscle fiber dysferlin (HP:0030115)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 14y
Phenotype/Onset Enlarged calf muscle (HP:00014300)
Protein -
Owner name Pieter Klap
Database submission license No license selected
Created by Pieter Klap
Date created 2016-06-23 10:37:26 +02:00 (CEST)
Date last edited 2016-10-11 12:31:54 +02:00 (CEST)

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